ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic for Seizures

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Total variants: 3
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HGVS dbSNP
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3690_3693del (p.Ile1229_Tyr1230insTer) rs1553531385
NM_006920.6(SCN1A):c.4521dup (p.Pro1508fs) rs794726825

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